AutismKB 2.0

Annotation Detail for GEMIN4


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Basic Information Top
Gene Symbol:GEMIN4 ( DKFZp434B131,DKFZp434D174,HC56,HCAP1,HHRF-1,p97 )
Gene Full Name: gem (nuclear organelle) associated protein 4
Band: 17p13.3
Quick LinksEntrez ID:50628; OMIM: 606969; Uniprot ID:Q8WUM5_HUMAN; ENSEMBL ID: ENSG00000179409; HGNC ID: 15717
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_015721
  • Location:chr17 594608-602149
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 602185 602518 333 202
CTCF CD4SISSRdata 602185 602518 333 202
CTCF HelaGSE12889 602241 602424 183 183
CTCF G2GSE9613 602049 603450 1401 600
PHF8 293TGSE20725 601559 602962 1403 111
PHF8 HeLaGSE20725 601635 603003 1368 170
hScc1 BcellGSE12603 601884 602838 954 212
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 598539 599825 1286 0
ETS1 JurkatGSE17954 601332 602704 1372 0
FOXA1 MCF7GSE15244 598463 599825 1362 0
H3K4me2 HCT116GSE10453 598539 599965 1426 0
H3ac HepG2E 598463 599965 1502 0
H3ac HepG2E 600344 601774 1430 0
RARG MCF7GSE15244 598574 599965 1391 0
USF1 HepG2E 598823 599788 965 0
USF2 HepG2E 598756 599893 1137 0
VDR GM10861-UnstimGSE22484 601124 602976 1852 0
VDR GM10861-stimGSE22484 601024 603210 2186 0
hScc1 BcellGSE12603 598539 599570 1031 0
hScc1 CdLSGSE12603 601519 602605 1086 0
Validated miRNA targets Top
Micro RNA Name Stem Loop Name The chromosome that miRNA located Publication
hsa-let-7a hsa-let-7a-1 9 12554860
hsa-let-7a hsa-let-7a-2 11 12554860
hsa-let-7a hsa-let-7a-3 22 12554860
hsa-let-7a* hsa-let-7a-1 9 12554860
hsa-let-7a* hsa-let-7a-3 22 12554860
hsa-let-7b hsa-let-7b 22 14970384
hsa-let-7b* hsa-let-7b 22 14970384
hsa-miR-100 hsa-mir-100 11 20585341
hsa-miR-100 hsa-mir-100 11 19851984
hsa-miR-100 hsa-mir-100 11 19138993
hsa-miR-100 hsa-mir-100 11 11914277
hsa-miR-100 hsa-mir-100 11 20732906
hsa-miR-100* hsa-mir-100 11 20585341
hsa-miR-100* hsa-mir-100 11 19851984
hsa-miR-100* hsa-mir-100 11 19138993
hsa-miR-100* hsa-mir-100 11 11914277
hsa-miR-100* hsa-mir-100 11 20732906
hsa-miR-101 hsa-mir-101-1 1 11914277
hsa-miR-101 hsa-mir-101-2 9 11914277
hsa-miR-101* hsa-mir-101-1 1 11914277
hsa-miR-103 hsa-mir-103-2 20 11914277
hsa-miR-103 hsa-mir-103-1 5 11914277
hsa-miR-105 hsa-mir-105-1 X 11914277
hsa-miR-105 hsa-mir-105-2 X 11914277
hsa-miR-105* hsa-mir-105-1 X 11914277
hsa-miR-105* hsa-mir-105-2 X 11914277
hsa-miR-106a hsa-mir-106a X 12554860
hsa-miR-106a hsa-mir-106a X 11914277
hsa-miR-106a* hsa-mir-106a X 12554860
hsa-miR-106a* hsa-mir-106a X 11914277
hsa-miR-107 hsa-mir-107 10 11914277
hsa-miR-124 hsa-mir-124-1 8 19851984
hsa-miR-124 hsa-mir-124-1 8 19138993
hsa-miR-124 hsa-mir-124-1 8 12554860
hsa-miR-124 hsa-mir-124-2 8 12554860
hsa-miR-124 hsa-mir-124-3 20 12554860
hsa-miR-124 hsa-mir-124-1 8 20732906
hsa-miR-124* hsa-mir-124-1 8 19851984
hsa-miR-124* hsa-mir-124-1 8 19138993
hsa-miR-124* hsa-mir-124-1 8 12554860
hsa-miR-124* hsa-mir-124-2 8 12554860
hsa-miR-124* hsa-mir-124-3 20 12554860
hsa-miR-124* hsa-mir-124-1 8 20732906
hsa-miR-146a hsa-mir-146a 5 20585341
hsa-miR-146a hsa-mir-146a 5 19138993
hsa-miR-146a hsa-mir-146a 5 20732906
hsa-miR-146a* hsa-mir-146a 5 20585341
hsa-miR-146a* hsa-mir-146a 5 19138993
hsa-miR-146a* hsa-mir-146a 5 20732906
hsa-miR-15a hsa-mir-15a 13 12554860
hsa-miR-15a* hsa-mir-15a 13 12554860
hsa-miR-15b hsa-mir-15b 3 12554860
hsa-miR-15b* hsa-mir-15b 3 12554860
hsa-miR-16 hsa-mir-16-1 13 11914277
hsa-miR-16 hsa-mir-16-2 3 11914277
hsa-miR-16-1* hsa-mir-16-1 13 11914277
hsa-miR-16-2* hsa-mir-16-2 3 11914277
hsa-miR-17 hsa-mir-17 13 12554860
hsa-miR-17 hsa-mir-17 13 11914277
hsa-miR-17* hsa-mir-17 13 12554860
hsa-miR-17* hsa-mir-17 13 11914277
hsa-miR-181a hsa-mir-181a-2 9 12554860
hsa-miR-181a hsa-mir-181a-1 1 12554860
hsa-miR-181a* hsa-mir-181a-1 1 12554860
hsa-miR-181a-2* hsa-mir-181a-2 9 12554860
hsa-miR-183 hsa-mir-183 7 12554860
hsa-miR-183* hsa-mir-183 7 12554860
hsa-miR-184 hsa-mir-184 15 12554860
hsa-miR-185 hsa-mir-185 22 12554860
hsa-miR-185* hsa-mir-185 22 12554860
hsa-miR-186 hsa-mir-186 1 12554860
hsa-miR-186* hsa-mir-186 1 12554860
hsa-miR-187 hsa-mir-187 18 12554860
hsa-miR-187* hsa-mir-187 18 12554860
hsa-miR-188-3p hsa-mir-188 X 12554860
hsa-miR-188-5p hsa-mir-188 X 12554860
hsa-miR-18a hsa-mir-18a 13 11914277
hsa-miR-18a* hsa-mir-18a 13 11914277
hsa-miR-190 hsa-mir-190 15 12554860
hsa-miR-191 hsa-mir-191 3 12554860
hsa-miR-191* hsa-mir-191 3 12554860
hsa-miR-192 hsa-mir-192 11 12554860
hsa-miR-192* hsa-mir-192 11 12554860
hsa-miR-196a hsa-mir-196a-2 12 20585341
hsa-miR-196a hsa-mir-196a-2 12 19851984
hsa-miR-196a hsa-mir-196a-2 12 19138993
hsa-miR-196a hsa-mir-196a-2 12 20732906
hsa-miR-196a* hsa-mir-196a-2 12 20585341
hsa-miR-196a* hsa-mir-196a-2 12 19851984
hsa-miR-196a* hsa-mir-196a-2 12 19138993
hsa-miR-196a* hsa-mir-196a-2 12 20732906
hsa-miR-196b hsa-mir-196b 7 12554860
hsa-miR-19a hsa-mir-19a 13 12554860
hsa-miR-19a hsa-mir-19a 13 11914277
hsa-miR-19a* hsa-mir-19a 13 12554860
hsa-miR-19a* hsa-mir-19a 13 11914277
hsa-miR-19b hsa-mir-19b-1 13 12554860
hsa-miR-19b hsa-mir-19b-2 X 12554860
hsa-miR-19b hsa-mir-19b-1 13 11914277
hsa-miR-19b hsa-mir-19b-2 X 11914277
hsa-miR-19b-1* hsa-mir-19b-1 13 12554860
hsa-miR-19b-1* hsa-mir-19b-1 13 11914277
hsa-miR-19b-2* hsa-mir-19b-2 X 12554860
hsa-miR-19b-2* hsa-mir-19b-2 X 11914277
hsa-miR-20a hsa-mir-20a 13 12554860
hsa-miR-20a* hsa-mir-20a 13 12554860
hsa-miR-21 hsa-mir-21 17 12554860
hsa-miR-21 hsa-mir-21 17 11914277
hsa-miR-21* hsa-mir-21 17 12554860
hsa-miR-21* hsa-mir-21 17 11914277
hsa-miR-219-1-3p hsa-mir-219-1 6 20585341
hsa-miR-219-1-3p hsa-mir-219-1 6 19851984
hsa-miR-219-1-3p hsa-mir-219-1 6 19138993
hsa-miR-219-1-3p hsa-mir-219-1 6 20732906
hsa-miR-219-5p hsa-mir-219-1 6 20585341
hsa-miR-219-5p hsa-mir-219-1 6 19851984
hsa-miR-219-5p hsa-mir-219-1 6 19138993
hsa-miR-219-5p hsa-mir-219-1 6 20732906
hsa-miR-22 hsa-mir-22 17 11914277
hsa-miR-22* hsa-mir-22 17 11914277
hsa-miR-224 hsa-mir-224 X 12554860
hsa-miR-23a hsa-mir-23a 19 11914277
hsa-miR-23a* hsa-mir-23a 19 11914277
hsa-miR-24 hsa-mir-24-1 9 11914277
hsa-miR-24 hsa-mir-24-2 19 11914277
hsa-miR-24-1* hsa-mir-24-1 9 11914277
hsa-miR-24-2* hsa-mir-24-2 19 11914277
hsa-miR-26a hsa-mir-26a-1 3 20585341
hsa-miR-26a hsa-mir-26a-2 12 20585341
hsa-miR-26a hsa-mir-26a-1 3 19851984
hsa-miR-26a hsa-mir-26a-2 12 19851984
hsa-miR-26a hsa-mir-26a-1 3 19138993
hsa-miR-26a hsa-mir-26a-1 3 20732906
hsa-miR-26a-1* hsa-mir-26a-1 3 20585341
hsa-miR-26a-1* hsa-mir-26a-1 3 19851984
hsa-miR-26a-1* hsa-mir-26a-1 3 19138993
hsa-miR-26a-1* hsa-mir-26a-1 3 20732906
hsa-miR-27a hsa-mir-27a 19 11914277
hsa-miR-27a* hsa-mir-27a 19 11914277
hsa-miR-27b hsa-mir-27b 9 12554860
hsa-miR-27b* hsa-mir-27b 9 12554860
hsa-miR-29a hsa-mir-29a 7 12554860
hsa-miR-29a* hsa-mir-29a 7 12554860
hsa-miR-29b hsa-mir-29b-1 7 11914277
hsa-miR-29b hsa-mir-29b-2 1 11914277
hsa-miR-29b-1* hsa-mir-29b-1 7 11914277
hsa-miR-29b-2* hsa-mir-29b-2 1 11914277
hsa-miR-29c hsa-mir-29c 1 12554860
hsa-miR-29c* hsa-mir-29c 1 12554860
hsa-miR-30a hsa-mir-30a 6 19851984
hsa-miR-30a hsa-mir-30a 6 19138993
hsa-miR-30a hsa-mir-30a 6 11914277
hsa-miR-30a hsa-mir-30a 6 20732906
hsa-miR-30a* hsa-mir-30a 6 19851984
hsa-miR-30a* hsa-mir-30a 6 19138993
hsa-miR-30a* hsa-mir-30a 6 11914277
hsa-miR-30a* hsa-mir-30a 6 20732906
hsa-miR-30c hsa-mir-30c-1 1 19851984
hsa-miR-30c hsa-mir-30c-1 1 19138993
hsa-miR-30c hsa-mir-30c-1 1 20732906
hsa-miR-30c-1* hsa-mir-30c-1 1 19851984
hsa-miR-30c-1* hsa-mir-30c-1 1 19138993
hsa-miR-30c-1* hsa-mir-30c-1 1 20732906
hsa-miR-34a hsa-mir-34a 1 12554860
hsa-miR-34a* hsa-mir-34a 1 12554860
hsa-miR-373 hsa-mir-373 19 19851984
hsa-miR-373 hsa-mir-373 19 19138993
hsa-miR-373 hsa-mir-373 19 20732906
hsa-miR-373* hsa-mir-373 19 19851984
hsa-miR-373* hsa-mir-373 19 19138993
hsa-miR-373* hsa-mir-373 19 20732906
hsa-miR-423-3p hsa-mir-423 17 20585341
hsa-miR-423-3p hsa-mir-423 17 19851984
hsa-miR-423-3p hsa-mir-423 17 19138993
hsa-miR-423-3p hsa-mir-423 17 20732906
hsa-miR-423-5p hsa-mir-423 17 20585341
hsa-miR-423-5p hsa-mir-423 17 19851984
hsa-miR-423-5p hsa-mir-423 17 19138993
hsa-miR-423-5p hsa-mir-423 17 20732906
hsa-miR-425 hsa-mir-425 3 21118967
hsa-miR-425* hsa-mir-425 3 21118967
hsa-miR-492 hsa-mir-492 12 19851984
hsa-miR-492 hsa-mir-492 12 19138993
hsa-miR-492 hsa-mir-492 12 20732906
hsa-miR-604 hsa-mir-604 10 20585341
hsa-miR-604 hsa-mir-604 10 19851984
hsa-miR-604 hsa-mir-604 10 19138993
hsa-miR-604 hsa-mir-604 10 20732906
hsa-miR-608 hsa-mir-608 10 19851984
hsa-miR-608 hsa-mir-608 10 19138993
hsa-miR-608 hsa-mir-608 10 20732906
hsa-miR-631 hsa-mir-631 15 19138993
hsa-miR-631 hsa-mir-631 15 20732906
hsa-miR-92a hsa-mir-92a-1 13 12554860
hsa-miR-92a hsa-mir-92a-2 X 12554860
hsa-miR-92a hsa-mir-92a-1 13 11914277
hsa-miR-92a hsa-mir-92a-2 X 11914277
hsa-miR-92a-1* hsa-mir-92a-1 13 12554860
hsa-miR-92a-1* hsa-mir-92a-1 13 11914277
hsa-miR-92a-2* hsa-mir-92a-2 X 12554860
hsa-miR-92a-2* hsa-mir-92a-2 X 11914277
hsa-miR-93 hsa-mir-93 7 12554860
hsa-miR-93 hsa-mir-93 7 11914277
hsa-miR-93* hsa-mir-93 7 12554860
hsa-miR-93* hsa-mir-93 7 11914277
hsa-miR-95 hsa-mir-95 4 11914277
hsa-miR-96 hsa-mir-96 7 11914277
hsa-miR-96* hsa-mir-96 7 11914277
hsa-miR-98 hsa-mir-98 X 11914277
hsa-miR-99a hsa-mir-99a 21 11914277
hsa-miR-99a* hsa-mir-99a 21 11914277
No data
Cis-Nats regulation Top

Simple Query:


  (e.g. CHD8)

Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

  • Studies: 1,036
  • Genes: 1,379
  • CNVs/SVs: 5,420
  • SNVs/Indels: 11,669
  • de novo Mutations: 5,669
  • Mosaics: 789
  • Linkage Regions: 172
  • Paper Collected: 6/30/2018
  • Last Update: 8/26/2018


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